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Muscular dystrophy is a group of inherited disorders that cause muscle weakness and loss of muscle tissue, which get worse over time.
Inherited myopathy, MD
Muscular dystrophies, or MD, are a group of inherited conditions. This means they are passed down through families. They may occur in childhood or adulthood. There are many different types of muscular dystrophy. They include:
Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.
Symptoms vary among the different types of muscular dystrophy. All of the muscles may be affected. Or, only specific groups of muscles may be affected, such as those around the pelvis, shoulder, or face. The muscle weakness slowly gets worse and symptoms can include:
Intellectual disability is present in some types of muscular dystrophy.
A physical examination and your medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.
The doctor's exam may show:
Often, there is a loss of muscle mass (wasting). This may be hard to see because some types of muscular dystrophy cause a buildup of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.
A muscle biopsy may be used to confirm the diagnosis. In some cases, a DNA blood test may be all that is needed.
Other tests may include:
There are no known cures for the various muscular dystrophies. The goal of treatment is to control symptoms.
Physical therapy may help maintain muscle strength and function. Leg braces and a wheelchair can improve mobility and self-care. In some cases, surgery on the spine or legs may help improve function.
Corticosteroids taken by mouth are sometimes prescribed to children with certain muscular dystrophies to keep them walking for as long as possible.
The person should be as active as possible. No activity at all (such as bedrest) can make the disease worse.
You can ease the stress of illness by joining a support group where members share common experiences and problems.
The severity of disability depends on the type of muscular dystrophy. All types of muscular dystrophy slowly get worse, but how fast this happens varies widely.
Some types of muscular dystrophy, such as Duchenne muscular dystrophy in boys, are deadly. Other types cause little disability and people have a normal lifespan.
Call your health care provider if:
Genetic counseling is advised when there is a family history of muscular dystrophy. Women may have no symptoms, but still carry the gene for the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies done during pregnancy.
Sarnat HB. Muscular dystrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 601.
Bushby RF, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, et al. Diagnosis and management of Duchenne muscular dystrophy. Lancet Neurol. 2010;9:77-93.